Canonical Allele Identifier: CA399702133
Gene: SOST HGNC NCBI

Linked Data

gnomAD v4: 17-43755644-G-T
MyVariant Identifiers: chr17:g.41833012G>T (hg19) chr17:g.43755644G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755644G>T , CM000679.2:g.43755644G>T GRCh38
NC_000017.10:g.41833012G>T , CM000679.1:g.41833012G>T GRCh37
NC_000017.9:g.39188538G>T NCBI36
NG_008078.2:g.8145C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.340C>A MANE Select ENSP00000301691.1:p.Leu114Met
ENST00000301691.2:c.340C>A ENSP00000301691.1:p.Leu114Met
NM_025237.2:c.340C>A NP_079513.1:p.Leu114Met
NM_025237.3:c.340C>A MANE Select NP_079513.1:p.Leu114Met
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